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Article

Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation

18 Aug 2021

Abstract excerpt

Rationale: Dominant heterozygous variants in filamin C ( FLNC ) cause diverse cardiomyopathies, although the underlying molecular mechanisms remain poorly understood. Objective: We aimed to define the molecular mechanisms by which FLNC variants altered human cardiomyocyte gene and protein expression, sarcomere structure, and contractile performance. Methods and Results: Using CRISPR/Cas9, we introduced FLNC...

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PMID: 34405687
DOI: 10.1161/circresaha.120.317076

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